title: MALDI-TOF mass spectrometry.
abstract: Major strengths of mass spectrometry analysis include the accuracy of the detection principle, automatic data storage as well as simplicity and flexibility of assay design making it a premier choice for targeted genotyping of sequence variations. We explain the assay principle in detail and give step-by-step laboratory instructions. Finally, references point toward further use of mass spectrometry analysis for molecular haplotyping, re-sequencing, and quantitative analysis for copy number variations and gene expression studies are given.
authors.affiliation: SEQUENOM® Inc., San Diego, CA, USA.
authors.forename: Dirk
authors.initials: D
authors.lastname: van den Boom
authors.forename: Matthias
authors.initials: M
authors.lastname: Wjst
authors.forename: Robin E
authors.initials: RE
authors.lastname: Everts
mesh_terms: D056915:DNA Copy Number Variations / Q000235:genetics; D060005:Genotyping Techniques / Q000379:methods*; D006239:Haplotypes / Q000235:genetics*; D057166:High-Throughput Screening Assays; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods*